Associated Papers
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Walczak-Sztulpa J et al.
Frontiers in Molecular Biosciences, 2023
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Walczak-Sztulpa J et al.
American Journal of Medical Genetics. Part A, 2022
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J et al.
American Journal of Medical Genetics. Part A, 2021
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
Walczak-Sztulpa J et al.
Birth Defects Research, 2018
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J et al.
American Journal of Medical Genetics. Part A, 2017
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
Li Y et al.
American Journal of Medical Genetics. Part A, 2015
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA et al.
Human Molecular Genetics, 2015
Select a paper to view details